Gene entry
PMP22
peripheral myelin protein 22
- Chromosome
- 17
- Cytoband
- 17p12
- Variants (rsID)
- 18
PMP22 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p12). Its official name is “peripheral myelin protein 22”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs104894619Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease, type 1a, autosomal recessive|Hereditary liability to pressure palsies|Charcot-Marie-Tooth disease, type IA|Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease|Toe walking
- rs28936682Conflicting interpretationssingle nucleotide variantAutosomal recessive Dejerine-Sottas syndrome|Charcot-Marie-Tooth disease type 1E|PMP22-Related Disorders|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type I|Hereditary liability to pressure palsies
- rs878853113Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease, type I
- rs11654383Likely benignsingle nucleotide variantCharcot-Marie-Tooth disease, type I|Hereditary liability to pressure palsies
- rs7415Likely benignsingle nucleotide variantCharcot-Marie-Tooth disease, type I|Hereditary liability to pressure palsies
- rs104894621Pathogenicsingle nucleotide variantDejerine-Sottas syndrome, autosomal dominant|Charcot-Marie-Tooth disease, type I|Inborn genetic diseases|Charcot-Marie-Tooth disease, type IA
- rs864622180PathogenicDeletionCharcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.